rs200252632

This variant is located in the APH1B gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About APH1B

This gene encodes a multi-pass transmembrane protein that is a functional component of the gamma-secretase complex, which also contains presenilin and nicastrin. This protein represents a stabilizing cofactor for the presenilin holoprotein in the complex. The gamma-secretase complex catalyzes the cleavage of integral proteins such as notch receptors and beta-amyloid precursor protein. [provided by RefSeq, Sep 2011]

View all APH1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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